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Select item 108449231.

Elucidation of ALG10B as a Novel Long QT Syndrome Susceptibility Gene

Wei Zhou, Dan Ye, David J. Tester, Sahej Bains, John R. Giudicessi, Carla M. Haglund-Turnquist, Kate M. Orland, Craig T. January, Lee L. Eckhardt, Kathleen R. Maginot, Michael J. Ackerman

Circ Genom Precis Med. Author manuscript; available in PMC 2024 Feb 6.

Published in final edited form as: Circ Genom Precis Med. 2023 Apr; 16(2): e003726. Published online 2023 Feb 22. doi: 10.1161/CIRCGEN.122.003726

PMCID:: PMC10844923

Article PDF–2.4M

Select item 104995442.

Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry

Lia Crotti, Carla Spazzolini, Mette Nyegaard, Michael T Overgaard, Maria-Christina Kotta, Federica Dagradi, Luca Sala, Takeshi Aiba, Mark D Ayers, Anwar Baban, Julien Barc, Cheyenne M Beach, Elijah R Behr, J Martijn Bos, Marina Cerrone, Peter Covi, Bettina Cuneo, Isabelle Denjoy, Birgit Donner, Adrienne Elbert, Håkan Eliasson, Susan P Etheridge, Megumi Fukuyama, Francesca Girolami, Robert Hamilton, Minoru Horie, Maria Iascone, Juan Jiménez Jaimez, Henrik Kjærulf Jensen, Prince J Kannankeril, Juan P Kaski, Naomasa Makita, Carmen Muñoz-Esparza, Hans H Odland, Seiko Ohno, John Papagiannis, Alessandra Pia Porretta, Christopher Prandstetter, Vincent Probst, Tomas Robyns, Eric Rosenthal, Ferran Rosés-Noguer, Nicole Sekarski, Anoop Singh, Georgia Spentzou, Fridrike Stute, Jacob Tfelt-Hansen, Jan Till, Kathryn E Tobert, Jeffrey M Vinocur, Gregory Webster, Arthur A M Wilde, Cordula M Wolf, Michael J Ackerman, Peter J Schwartz

Eur Heart J. 2023 Sep 14; 44(35): 3357–3370. Published online 2023 Aug 2. doi: 10.1093/eurheartj/ehad418

PMCID:: PMC10499544

Article PDF–1.7M

Select item 103943763.

Mechanistic understanding of KCNQ1 activating polyunsaturated fatty acid analogs

Jessica J. Jowais, Samira Yazdi, Alessia Golluscio, Vanessa Olivier-Meo, Sara I. Liin, H. Peter Larsson

J Gen Physiol. 2023 Oct 2; 155(10): e202313339. Published online 2023 Aug 1. doi: 10.1085/jgp.202313339

PMCID:: PMC10394376

Article PDF–4.9M

Select item 103821124.

Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland

Gardar Sveinbjornsson, Bara D. Benediktsdottir, Gunnlaugur Sigfusson, Kristjan Norland, Olafur B. Davidsson, Rosa B. Thorolfsdottir, Vinicius Tragante, Gudny A. Arnadottir, Brynjar O. Jensson, Hildigunnur Katrinardottir, Run Fridriksdottir, Hallbera Gudmundsdottir, Hildur M. Aegisdottir, Brynjar Fridriksson, Gudmundur Thorgeirsson, Vidar Magnusson, Asmundur Oddsson, Patrick Sulem, Daniel F. Gudbjartsson, Hilma Holm, David O. Arnar, Kari Stefansson

J Am Heart Assoc. 2023 Jul 18; 12(14): e029845. Published online 2023 Jul 14. doi: 10.1161/JAHA.123.029845

PMCID:: PMC10382112

Article PDF–1.5M

Select item 102998965.

Beneficial effects of chronic mexiletine treatment in a human model of SCN5A overlap syndrome

Giovanna Nasilli, Loukia Yiangou, Chiara Palandri, Elisabetta Cerbai, Richard P Davis, Arie O Verkerk, Simona Casini, Carol Ann Remme

Europace. 2023 Jun; 25(6): euad154. Published online 2023 Jun 27. doi: 10.1093/europace/euad154

PMCID:: PMC10299896

Article PDF–1018K

Select item 102286156.

Gene- and variant-specific efficacy of serum/glucocorticoid-regulated kinase 1 inhibition in long QT syndrome types 1 and 2

Federica Giannetti, Miriam Barbieri, Assad Shiti, Simona Casini, Philip T Sager, Saumya Das, Sabindra Pradhananga, Dinesh Srinivasan, Saranda Nimani, Nicolò Alerni, Julien Louradour, Manuela Mura, Massimiliano Gnecchi, Paul Brink, Manfred Zehender, Gideon Koren, Antonio Zaza, Lia Crotti, Arthur A M Wilde, Peter J Schwartz, Carol Ann Remme, Lior Gepstein, Luca Sala, Katja E Odening

Europace. 2023 May; 25(5): euad094. Published online 2023 Apr 26. doi: 10.1093/europace/euad094

PMCID:: PMC10228615

Article PDF–1.6M

Select item 102165087.

Genome Editing and Cardiac Arrhythmias

Oliver M. Moore, Kevin S. Ho, Juwan S. Copeland, Vaidya Parthasarathy, Xander H. T. Wehrens

Cells. 2023 May; 12(10): 1363. Published online 2023 May 11. doi: 10.3390/cells12101363

PMCID:: PMC10216508

Article PDF–3.5M

Select item 99922228.

Continuous Bayesian Variant Interpretation Accounts for Incomplete Penetrance among Mendelian Cardiac Channelopathies

Matthew J. O’Neill, Luca Sala, Isabelle Denjoy, Yuko Wada, Krystian Kozek, Lia Crotti, Federica Dagradi, Maria-Christina Kotta, Carla Spazzolini, Antoine Leenhardt, Joe-Elie Salem, Asami Kashiwa, Seiko Ohno, Ran Tao, Dan M. Roden, Minoru Horie, Fabrice Extramiana, Peter J. Schwartz, Brett M. Kroncke

Genet Med. Author manuscript; available in PMC 2024 Mar 1.

Published in final edited form as: Genet Med. 2023 Mar; 25(3): 100355. Published online 2022 Dec 7. doi: 10.1016/j.gim.2022.12.002

PMCID:: PMC9992222

Article PDF–1.8M

Select item 99691969.

Association of NOS1AP Genetic Variants With QT Interval Duration in Families From the Diabetes Heart Study

Allison B. Lehtinen, Christopher Newton-Cheh, Julie T. Ziegler, Carl D. Langefeld, Barry I. Freedman, Kurt R. Daniel, David M. Herrington, Donald W. Bowden

Diabetes. Author manuscript; available in PMC 2023 Feb 27.

Published in final edited form as: Diabetes. 2008 Apr; 57(4): 1108–1114. Published online 2008 Jan 30. doi: 10.2337/db07-1365

PMCID:: PMC9969196

Article PDF–336K

Select item 988786710.

Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population

Ewa Sieliwonczyk, Maaike Alaerts, Eline Simons, Dirk Snyders, Aleksandra Nijak, Bert Vandendriessche, Dorien Schepers, Dogan Akdeniz, Emeline Van Craenenbroeck, Katleen Knaepen, Laura Rabaut, Hein Heidbuchel, Lut Van Laer, Johan Saenen, Alain J. Labro, Bart Loeys

Orphanet J Rare Dis. 2023; 18: 23. Published online 2023 Jan 31. doi: 10.1186/s13023-023-02618-4

PMCID:: PMC9887867

Article PDF–1.3M

Select item 977298011.

Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies

Matthew J. O’Neill, Yuko Wada, Lynn D. Hall, Devyn W. Mitchell, Andrew M. Glazer, Dan M. Roden

Circ Genom Precis Med. Author manuscript; available in PMC 2023 Dec 1.

Published in final edited form as: Circ Genom Precis Med. 2022 Dec; 15(6): e003782. Published online 2022 Oct 5. doi: 10.1161/CIRCGEN.122.003782

PMCID:: PMC9772980

Article PDF–1.4M

Select item 965160312.

Genetic variants in Colombian patients with inherited cardiac conditions

Cynthia Rucinski, Luz Karime Yunis, Fernando Rosas, David Santacruz, Juan Manuel Camargo, Juan José Yunis

Mol Genet Genomic Med. 2022 Nov; 10(11): e2046. Published online 2022 Oct 6. doi: 10.1002/mgg3.2046

PMCID:: PMC9651603

Article PDF–598K

Select item 963076013.

Accelerated QT adaptation following atropine‐induced heart rate increase in LQT1 patients versus healthy controls: A sign of disturbed hysteresis

Pia Dahlberg, Karl‐Jonas Axelsson, Steen M. Jensen, Gunilla Lundahl, Farzad Vahedi, Rosie Perkins, Lennart Gransberg, Lennart Bergfeldt

Physiol Rep. 2022 Nov; 10(21): e15487. Published online 2022 Nov 2. doi: 10.14814/phy2.15487

PMCID:: PMC9630760

Article PDF–1.6M

Select item 953525914.

QT_c interval and ventricular action potential prolongation in the Mecp2^Null/+ murine model of Rett syndrome

Hongwei Cheng, Ian Charles, Andrew F. James, Ana P. Abdala, Jules C. Hancox

Physiol Rep. 2022 Oct; 10(19): e15437. Published online 2022 Oct 5. doi: 10.14814/phy2.15437

PMCID:: PMC9535259

Article PDF–976K

Select item 942304115.

Abnormal Repolarization Duration During Everyday Emotional Arousal in Long QT Syndrome and Coronary Artery Disease

Richard D. Lane, Harry T. Reis, Chiu-Hsieh Hsu, Karl B. Kern, Jean Philippe Couderc, Arthur J. Moss, Wojciech Zareba

Am J Med. Author manuscript; available in PMC 2022 Aug 29.

Published in final edited form as: Am J Med. 2018 May; 131(5): 565–572.e2. Published online 2018 Jan 5. doi: 10.1016/j.amjmed.2017.12.017

PMCID:: PMC9423041

Article PDF–448K

Select item 938460616.

From novel discovery tools and biomarkers to precision medicine - basic cardiovascular science highlights of 2021/2022

Paul C Evans, Sean M Davidson, Johann Wojta, Magnus Bäck, Sveva Bollini, Mairi Brittan, Alberico L Catapano, Bill Chaudhry, Matthijs Cluitmans, Massimiliano Gnecchi, Tomasz J Guzik, Imo Hoefer, Rosalinda Madonna, João P Monteiro, Henning Morawietz, Elena Osto, Teresa Padró, Judith C Sluimer, Carlo Gabriele Tocchetti, Kim Van der Heiden, Gemma Vilahur, Johannes Waltenberger, Christian Weber

Cardiovasc Res. 2022 Jul 28 : cvac114. Published online 2022 Jul 28. doi: 10.1093/cvr/cvac114

PMCID:: PMC9384606

Abstract PDF–1.5M

Select item 930275617.

Novel CACNA1C R511Q mutation, located in domain Ⅰ-Ⅱ linker, causes non-syndromic type-8 long QT syndrome

Tadashi Nakajima, Reika Kawabata-Iwakawa, Shuntaro Tamura, Hiroshi Hasegawa, Takashi Kobari, Hideki Itoh, Minoru Horie, Masahiko Nishiyama, Masahiko Kurabayashi, Yoshiaki Kaneko, Hideki Ishii

PLoS One. 2022; 17(7): e0271796. Published online 2022 Jul 21. doi: 10.1371/journal.pone.0271796

PMCID:: PMC9302756

Article PDF–1.5M

Select item 929687018.

Multiple mechanisms underlie reduced potassium conductance in the p.T1019PfsX38 variant of hERG

Majid K. Al Salmani, Rezvan Tavakoli, Wajid Zaman, Ahmed Al Harrasi

Physiol Rep. 2022 Jul; 10(14): e15341. Published online 2022 Jul 19. doi: 10.14814/phy2.15341

PMCID:: PMC9296870

Article PDF–2.2M

Select item 928373219.

Influence of CYP2D6 genetic variation on adverse events with propafenone in the pediatric and young adult population

Sudeep D. Sunthankar, Prince J. Kannankeril, Andrea Gaedigk, Andrew E. Radbill, Frank A. Fish, Sara L. Van Driest

Clin Transl Sci. 2022 Jul; 15(7): 1787–1795. Published online 2022 May 26. doi: 10.1111/cts.13296

PMCID:: PMC9283732

Article PDF–359K

Select item 912579720.

Docosahexaenoic acid normalizes QT interval in long QT type 2 transgenic rabbit models in a genotype-specific fashion

Alessandro Castiglione, Tibor Hornyik, Eike M Wülfers, Lucilla Giammarino, Iask Edler, Jessica J Jowais, Marina Rieder, Stefanie Perez-Feliz, Gideon Koren, Zsuzsanna Bősze, András Varró, Manfred Zehender, Michael Brunner, Christoph Bode, Sara I Liin, Hans Peter Larsson, István Baczkó, Katja E Odening

Europace. 2022 Mar; 24(3): 511–522. Published online 2021 Oct 3. doi: 10.1093/europace/euab228

PMCID:: PMC9125797

Article PDF–2.0M

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